Spinal muscular atrophy ( SMA ):
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Degenerative disease of motor neurons caused by the mutation of SMN gene with autosomal recessive inheritance.
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Clinical features: Usually starts in infancy with hypotonia , hyporeflexia , and thin muscle mass.
( Significant Prenatal history of polyhydramnios and decreased foetal movements ) -
Diagnosis: Genetic testing for SMN gene mutation .
Muscle biopsy for cases of negative genetic testing. -
Treatment: symptomatic and supportive.
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Recent update : NUSINERSEN ( anti sense oligonucleotide ) is the newly approved (1st ) drug by FDA for treatment of SMA.